Varaico: Literature-Extracted Genetic Variants

Gene:AMPD2
Variant:p.Q400*

AMPD2

84 papers

RefSeq Summary

The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several...

Pfam Domains

AMP_deaminaseaa 163–806UCSCAMP deaminase

Gene Aliases

HGNC Name

adenosine monophosphate deaminase 2

HGNC Alias Symbol

SPG63

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001368809.2
p.Q400*
c.1198C>T
Surrounding Variants
2 papers
NM_001368809.2
p.S408R
c.1222A>C
2 papers
NM_001368809.2
p.S408R
c.1224C>A
2 papers
NM_001368809.2
p.S408R
c.1224C>G
1 paper
NM_001368809.2
p.A413delFs
c.1239delC
3 papers
NM_001257361.2
p.A349A
c.1047C>A
1 paper
NM_001368809.2
p.S417_D419delFs
c.1249_1255del7
2 papers
NM_001368809.2
p.L421_A425insFs
c.1262_1274dup13
1 paper
NM_001368809.2
p.R378H
c.1133G>A
1 paper
NM_001368809.2
p.R378P
c.1133G>C
1 paper
NM_001368809.2
p.R378C
c.1132C>T
1 paper
NM_001368809.2
p.L377L
c.1129C>T
1 paper
NM_001368809.2
p.H375D
c.1123C>G
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